scholarly journals A Nonsense Mutation in CRYBB1 Associated with Autosomal Dominant Cataract Linked to Human Chromosome 22q

2002 ◽  
Vol 71 (5) ◽  
pp. 1216-1221 ◽  
Author(s):  
Donna S. Mackay ◽  
Olivera B. Boskovska ◽  
Harry L.S. Knopf ◽  
Kirsten J. Lampi ◽  
Alan Shiels
Keyword(s):  
Human Chromosome ◽  
Nonsense Mutation ◽  
Autosomal Dominant ◽  
Chromosome 22Q

scholarly journals Identification of a novel RHO heterozygous nonsense mutation in a Chinese family with autosomal dominant retinitis pigmentosa

2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Wei Liu ◽  
Ruru Guo ◽  
Huijie Hao ◽  
Jian Ji
Keyword(s):  
Retinitis Pigmentosa ◽  
Nonsense Mutation ◽  
Autosomal Dominant ◽  
Bioinformatics Analysis ◽  
Molecular Genetic ◽  
Chinese Family ◽  
Graphic System ◽  
Multiple Sequence ◽  
Target Region ◽  
Autosomal Dominant Retinitis Pigmentosa

Abstract Background To explore the molecular genetic cause of a four-generation autosomal dominant retinitis pigmentosa family in China. Methods Targeted region sequencing was performed to detect the potential mutation, and Sanger sequencing was used to validate the mutation. Multiple sequence alignment from different species was performed by CLUSTALW. The structures of wild-type and the mutant RHO were modeled by Swiss-Model Server and shown using a PyMOL Molecular Graphic system. Results A novel heterozygous nonsense mutation (c.1015 A > T, p.Lys339Ter, p.K339X) within RHO, which cosegregated with retinitis pigmentosa phenotype was detected in this family. Bioinformatics analysis showed the mutation was located in a highly conserved region, and the mutation was predicted to be pathogenic. Conclusions We identified a novel heterozygous nonsense mutation of RHO gene in a Chinese family with retinitis pigmentosa by target region sequencing and our bioinformatics analysis indicated that the mutation is pathogenic. Our results can broaden the spectrum of RHO gene mutation and enrich the phenotype-genotype correlation of retinitis pigmentosa.

scholarly journals An autosomal dominant posterior polar cataract locus maps to human chromosome 20p12–q12

2000 ◽  
Vol 8 (7) ◽  
pp. 535-539 ◽  
Author(s):  
Koki Yamada ◽  
Hiro-aki Tomita ◽  
Koh-ichiro Yoshiura ◽  
Shinji Kondo ◽  
Keiko Wakui ◽  
...  
Keyword(s):  
Human Chromosome ◽  
Autosomal Dominant ◽  
Posterior Polar Cataract
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